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Intellectual disability

Gene: TRNT1

Amber List (moderate evidence)

TRNT1 (tRNA nucleotidyl transferase 1)
EnsemblGeneIds (GRCh38): ENSG00000072756
EnsemblGeneIds (GRCh37): ENSG00000072756
OMIM: 612907, Gene2Phenotype
TRNT1 is in 12 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - sufficient number of cases with (mild-profound) developmental delay, associated with biallelic variants in TRNT1.
Created: 24 Aug 2020, 12:49 p.m. | Last Modified: 24 Aug 2020, 12:49 p.m.
Panel Version: 3.264

Zornitza Stark (Australian Genomics)

Green List (high evidence)

> 10 families reported with congenital sideroblastic anemia, B-cell deficiency, periodic fevers, and variable degrees of delayed psychomotor development.
Sources: Expert list
Created: 1 Mar 2020, 9:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084
Tags
for-review
OMIM
612907
Clinvar variants
Variants in TRNT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TRNT1.

24 Aug 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523

24 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trnt1 has been classified as Amber List (Moderate Evidence).

1 Mar 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523 Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 Review for gene: TRNT1 was set to GREEN gene: TRNT1 was marked as current diagnostic